John (Pei-Wen) Chiang, PhD, FACMG, Director of CEI Molecular Diagnostics Laboratory
The Casey Eye Institute Molecular Diagnostics Laboratory is a CLIA certified laboratory providing comprehensive molecular testing for genetic diseases involving the eye. Our mission is to identify causative genetic mutation(s) in a timely and cost effective manner.
We would like to share our philosophy and service delivery model. In essence, client satisfaction is our core value and purpose.
Retinal Dystrophy NGS Panel and Array CGH arrives at Casey Molecular Diagnostic Laboratory
At Casey Molecular Diagnostic laboratory, we are determined to provide the best values, the best products and the best services to our clients. Clinical utility is in our DNA. Our NGS testing combines the specificity of PCR enrichment and the sequencing power of Illumina MiSeq. In order to improve mutation detection rate, we have expanded our RP panel by including more genes. This new Retinal Dystrophy NGS Panel offers comprehensive testing for most non-syndromic genes and some syndromic genes associated with retinal dystrophy.
We have also developed an array CGH based assay for the detection of indel mutations of eye genes. Our initial results are very encouraging. Several EYS indel mutations were identified and confirmed. Indel mutations were also identified and confirmed in RPGRIP1 and in ABCA4. Because of the high density of probes on array, the range of aberrations can be defined with great certainty. We can confirm most indel mutations with our expertise in PCR and gel electrophoresis. If necessary, TaqMan qPCR can also be run to confirm indel mutations.
With these two exciting additions to our laboratory, we are confident and eager to serve our clients and to help provide the best possible care for patients around the world.
Tier I testing - NGS of retinal dystrophy genes (128 genes; $2,500)
Tier II testing - Array CGH analysis of eye genes ($650)
For clients ordering both Tier I and Tier II testing (when indel mutations are identified), we offer free parental testing to confirm indel mutations by either PCR and gel electrophoresis or by TaqMan qPCR.
CASEY GENETICIST AND COLLABORATORS UNCOVER GENE LINKED TO SEVERE CHILDHOOD BLINDNESS
For nearly three years, Troy and Jennifer Stevens struggled to learn the identity of the gene responsible for their son Gavin’s blindness. Although doctors were able to diagnose him with Leber congenital amaurosis – a rare form of inherited childhood blindness – the first round of genetic testing could not pinpoint the defective gene.